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KH
MCID: KPS002
MIFTS: 50

Kaposiform Hemangioendothelioma (KH)

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Kaposiform Hemangioendothelioma

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MalaCards integrated aliases for Kaposiform Hemangioendothelioma:

Name: Kaposiform Hemangioendothelioma 20 58 6 71
Congenital Cutaneous Multifocal Kaposiform Hemangioendothelioma 20
Kaposiform Hemangio-Endothelioma 20
Khe 20
Kh 20

Characteristics:

Orphanet epidemiological data:

58
kaposiform hemangioendothelioma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Cancer diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C537007
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 72 C1367420
Orphanet 58 ORPHA2122
UMLS 71 C1367420
Sources

Summaries for Kaposiform Hemangioendothelioma

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2122DefinitionA very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.Visit the Orphanet disease page for more resources.

MalaCards based summary : Kaposiform Hemangioendothelioma, also known as congenital cutaneous multifocal kaposiform hemangioendothelioma, is related to hemangioendothelioma and thrombocytopenia. An important gene associated with Kaposiform Hemangioendothelioma is GNA14 (G Protein Subunit Alpha 14), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Tacrolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include endothelial, spleen and tongue, and related phenotypes are cardiovascular system and cellular

Wikipedia : 74 A vascular tumor is a tumor of vascular origin; a soft tissue growth that can be either benign or... more...

Sources

Related Diseases for Kaposiform Hemangioendothelioma

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Diseases related to Kaposiform Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 31.8 FLT4 FLI1 CD34
2 thrombocytopenia 30.4 VWF PECAM1 FLI1 CD34
3 spindle cell hemangioma 30.3 PROX1 GNA14
4 hemangiopericytoma, malignant 30.0 PECAM1 CD34
5 intussusception 29.8 PECAM1 KDR CD34
6 sarcoma 29.8 MTOR KDR FLT4 FLI1
7 lymphangioma 29.5 PROX1 PECAM1 KDR FLT4 CD34
8 capillary hemangioma 29.3 PROX1 PECAM1 KDR GNA14 FLT4 CD34
9 vascular cancer 29.3 VWF PECAM1 KDR FLT4 FLI1 CD34
10 hemangioma 28.5 VWF PROX1 PECAM1 MTOR KDR GNA14
11 angioma, tufted 11.3
12 hemangioma-thrombocytopenia syndrome 10.8
13 kaposi sarcoma 10.7
14 rare vascular tumor 10.7
15 lymphangiomatosis 10.6
16 rare lymphatic malformation 10.4
17 rare tumor 10.4
18 disseminated intravascular coagulation 10.3
19 obstructive jaundice 10.3
20 intestinal obstruction 10.3
21 pyogenic granuloma 10.3
22 congenital hemangioma 10.3
23 scoliosis 10.2
24 respiratory failure 10.2
25 spindle cell sarcoma 10.2
26 hemolytic anemia 10.2
27 rapidly involuting congenital hemangioma 10.2
28 papillary adenofibroma 10.2 VWF CD34
29 hepatic angiomyolipoma 10.1 MTOR CD34
30 mobitz type ii atrioventricular block 10.1 KDR CD34
31 infiltrating angiolipoma 10.1 VWF CD34
32 skin epithelioid hemangioma 10.1 PECAM1 CD34
33 aortic malignant tumor 10.1 PECAM1 CD34
34 prostate angiosarcoma 10.1 PECAM1 CD34
35 central nervous system angiosarcoma 10.1 PECAM1 CD34
36 intravascular angioleiomyoma 10.1 PECAM1 CD34
37 central nervous system hemangioma 10.1 PECAM1 CD34
38 heart fibrosarcoma 10.1 PECAM1 CD34
39 ovarian angiosarcoma 10.1 PECAM1 CD34
40 conventional angiosarcoma 10.1 PECAM1 CD34
41 gallbladder leiomyosarcoma 10.1 PECAM1 CD34
42 thyroid sarcoma 10.1 PECAM1 CD34
43 angiomyoma 10.1 PECAM1 CD34
44 retroperitoneal hemangiopericytoma 10.1 PECAM1 CD34
45 glomangiosarcoma 10.1 PECAM1 CD34
46 hemangioma of spleen 10.1 PECAM1 CD34
47 liposarcoma of bone 10.1 PECAM1 CD34
48 colonic lymphangioma 10.1 PECAM1 CD34
49 liver leiomyoma 10.1 PECAM1 CD34
50 benign perivascular tumor 10.1 PECAM1 CD34

Graphical network of the top 20 diseases related to Kaposiform Hemangioendothelioma:



Diseases related to Kaposiform Hemangioendothelioma
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Symptoms & Phenotypes for Kaposiform Hemangioendothelioma

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MGI Mouse Phenotypes related to Kaposiform Hemangioendothelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 FLI1 FLT4 KDR MTOR PECAM1 PROX1
2 cellular MP:0005384 9.87 CD34 FLI1 KDR MTOR PECAM1 PROX1
3 hematopoietic system MP:0005397 9.8 CD34 FLI1 KDR MTOR PECAM1 PROX1
4 immune system MP:0005387 9.76 CD34 FLI1 FLT4 KDR MTOR PECAM1
5 liver/biliary system MP:0005370 9.35 FLI1 FLT4 KDR PECAM1 PROX1
6 muscle MP:0005369 9.1 FLI1 FLT4 KDR MTOR PECAM1 PROX1
Sources

Drugs & Therapeutics for Kaposiform Hemangioendothelioma

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Drugs for Kaposiform Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
4
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
5 Immunosuppressive Agents Phase 4
6 Immunologic Factors Phase 4
7 Calcineurin Inhibitors Phase 4
8 Antifungal Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Anti-Bacterial Agents Phase 4
11 Anti-Infective Agents Phase 4
12
Propranolol Approved, Investigational Phase 2 525-66-6 4946
13
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
14
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
15
tannic acid Approved Phase 2 1401-55-4
16 Anti-Inflammatory Agents Phase 2
17 Adrenergic Antagonists Phase 2
18 Hormone Antagonists Phase 2
19 Adrenergic beta-Antagonists Phase 2
20 Antihypertensive Agents Phase 2
21 glucocorticoids Phase 2
22 Neurotransmitter Agents Phase 2
23 Antineoplastic Agents, Hormonal Phase 2
24 Vasodilator Agents Phase 2
25 Adrenergic Agents Phase 2
26 Anti-Arrhythmia Agents Phase 2
27 Antimitotic Agents Phase 2
28 Tubulin Modulators Phase 2
29
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
30 Prednisolone acetate Approved, Vet_approved Phase 1 52-21-1
31
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
32
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
33
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
34
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865
35
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
36 Methylprednisolone Acetate Phase 1
37 Hormones Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study Recruiting NCT04056962 Phase 4 Tacrolimus ointment
2 Guided Discontinuation Versus Maintenance Treatment of Sirolimus in Pediatric Patients With Kaposiform Hemangioendothelioma: a Randomized Controlled Trial Recruiting NCT04448873 Phase 4 Sirolimus
3 A Phase 2 Study - Clinical Trial Assessing Efficacy and Safety of the mTOR Inhibitor Sirolimus in the Treatment of Complicated Vascular Anomalies Unknown status NCT00975819 Phase 2 sirolimus
4 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
5 A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE). Active, not recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
6 A Clinical Study on the Treatment of Kaposiform Hemangioendothelioma (KHE) With Kasabach-Merritt Phenomenon (KMP) by Hormone Shock and Sirolimus Maintenance Not yet recruiting NCT04409691 Phase 1 prednison and Sirolimus;prednison

Search NIH Clinical Center for Kaposiform Hemangioendothelioma

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Genetic Tests for Kaposiform Hemangioendothelioma

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Anatomical Context for Kaposiform Hemangioendothelioma

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MalaCards organs/tissues related to Kaposiform Hemangioendothelioma:

40
Endothelial, Spleen, Tongue, Lymph Node, Thymus, Colon, Breast
Sources

Publications for Kaposiform Hemangioendothelioma

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Articles related to Kaposiform Hemangioendothelioma:

(show top 50) (show all 305)
# Title Authors PMID Year
1
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. 61
33580918 2021
2
Comparison of efficacy and safety of corticosteroid and vincristine in treating kaposiform hemangioendothelioma and tufted angioma: A multicenter prospective randomized controlled clinical trial. 61
33608936 2021
3
Contemporary Management of Vascular Anomalies of the Head and Neck-Part 1: Vascular Malformations: A Review. 61
33237296 2021
4
[A case of neonatal mesenteric Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon]. 61
33548963 2021
5
Use of Sirolimus in a Premature Neonate With Kaposiform Hemangioedema. 61
33603586 2021
6
Additive value of transarterial embolization to systemic sirolimus treatment in kaposiform hemangioendothelioma. 61
33231291 2020
7
Chronic lymphedema in patients with kaposiform hemangioendothelioma: incidence, clinical features, risk factors and management. 61
33160383 2020
8
Sirolimus for Kaposiform Hemangioendothelioma and Kasabach-Merritt Phenomenon in a Neonate. 61
33214934 2020
9
Kasabach-Merritt-like phenomenon in a massive uterine leiomyoma presenting with chronic disseminated intravascular coagulation: A case report. 61
33134091 2020
10
Radiation Induced Multiple Skin Neoplasms Following Craniospinal Irradiation for Medulloblastoma. A Case Report. 61
33125361 2020
11
Kaposiform hemangioendothelioma with overlapping features of rapidly involuting congenital hemangioma and a delayed complication of necrotizing fasciitis. 61
32677125 2020
12
Reactivation of Kasabach-Merritt phenomenon in a young adult with a congenital kaposiform hemangioendothelioma. 61
32543761 2020
13
Intracranial kaposiform hemangioendothelioma presenting as epistaxis: a rare case report with review of literature. 61
32989498 2020
14
Standards of care for Kasabach-Merritt phenomenon in China. 61
32851561 2020
15
Retroperitoneal kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon and obstructive jaundice: A retrospective series of 3 patients treated with sirolimus. 61
32212177 2020
16
Successful management of a pregnant woman with Kasabach-Merritt syndrome and preeclampsia: A case report. 61
32664166 2020
17
Kaposiform Hemangioendothelioma in the Thoracic Spine: A Case Report and Review of the Literature. 61
32699767 2020
18
Analysis of mTOR pathway expression in lymphatic malformation and related diseases. 61
32067331 2020
19
Sirolimus for Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon in Two Infants. 61
32176003 2020
20
Kaposiform Hemangioendothelioma with Kasabach-Merritt Phenomenon in a Neonate - Role of Dual Therapy: A Case Report and Review of Literature. 61
32581448 2020
21
Effective surgical treatment of life-threatening huge vascular anomalies associated with thrombocytopenia and coagulopathy in infants unresponsive to drug therapy. 61
32340603 2020
22
Endothelial cell malignancies in infants, children and adolescents: Treatment results of three Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry. 61
31814291 2020
23
Kaposiform hemangioendothelioma: current knowledge and future perspectives. 61
32014025 2020
24
Kaposiform hemangioendothelioma and tufted angioma - (epi)genetic analysis including genome-wide methylation profiling. 61
31887709 2020
25
Immunohistochemical Analysis of mTOR Pathway-Related Proteins in Kaposiform Hemangioendothelioma. 61
31896113 2020
26
What is new in endothelial neoplasia? 61
31463731 2020
27
Kaposiform hemangioma of jejunum in a newborn: A case report and review of literature. 61
33074134 2020
28
Retiform hemangioendothelioma: An uncommon vascular neoplasm. 61
32031140 2020
29
Kaposiform Hemangioendothelioma in Adolescent-Onset Scoliosis: A Case Report and Review of Literature. 61
32089925 2020
30
Sirolimus Treatment of an Infant With Intrathoracic Kaposiform Hemangioendothelioma Complicated by Life-threatening Pleural and Pericardial Effusions. 61
30044355 2020
31
NEWBORNS WITH KASABACH-MERRITT PHENOMENON-ASSOCIATED KAPOSIFORM HEMANGIOENDOTHELIOMA: A REPORT OF 6 CASES. 61
33055352 2020
32
Upper arm life-saving amputation of a 12 day-old neonate due to extensive vascular tumor of the upper extremity. 61
32175905 2020
33
Bifocal Tibial Kaposiform Hemangioendothelioma Responsive to Vincristine Therapy: A Case Report. 61
31866667 2019
34
Congenital hemangioma of the face-Value of fetal MRI with prenatal ultrasound. 61
31695833 2019
35
Sirolimus therapy for kaposiform hemangioendothelioma with long-term follow-up. 61
31489702 2019
36
Comparison of Corticosteroid and Vincristine in Treating Kaposiform Hemangioendothelioma and Tufted Angioma: A Systematic Review and Meta-Analysis. 61
30372769 2019
37
Ultrasonography and magnetic resonance imaging features of kaposiform hemangioendothelioma and tufted angioma. 61
31373042 2019
38
Tacrolimus ointment for the treatment of superficial kaposiform hemangioendothelioma and tufted angioma. 61
31373046 2019
39
Population pharmacokinetics of sirolimus in pediatric patients with kaposiform hemangioendothelioma: A retrospective study. 61
31452734 2019
40
A not so harmless mass: Kaposiform hemangioendothelioma complicated by a Kasabach-Merritt phenomenon. 61
31353149 2019
41
Low dose sirolimus treatment for refractory tufted angioma and congenital kaposiform hemangioendothelioma, both with Kasabach-Merritt phenomenon. 61
31087627 2019
42
Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: similarities and differences. 61
31277673 2019
43
A report on Kaposiform hemangioendothelioma in the cervical spine. 61
30896568 2019
44
Activation of Hedgehog Signaling in Aggressive Hepatic Hemangioma in Newborns and Infants. 61
31092427 2019
45
Pediatric facial kaposiform hemangioendothelioma: a case report and review of the literature. 61
31044058 2019
46
[Our experience with sirolimus for the treatment of complicated vascular anomalies]. 61
30714698 2019
47
Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam's Principle in an Adult with SBO. 61
31093393 2019
48
Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review. 61
31956645 2019
49
Pancreatic kaposiform hemangioendothelioma complicated by Kasabach-Merritt phenomenon: A rare entity. 61
31754542 2019
50
Kaposiform hemangioendothelioma with Kasabach-Merritt phenomenon in an infant: Successful treatment with prednisolone, vincristine, and addition of sirolimus. 61
30070028 2018
Sources

Variations for Kaposiform Hemangioendothelioma

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ClinVar genetic disease variations for Kaposiform Hemangioendothelioma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNA14 NM_004297.4(GNA14):c.614A>T (p.Gln205Leu) SNV Likely pathogenic 548667 rs1554685903 9:80043932-80043932 9:77429016-77429016

Cosmic variations for Kaposiform Hemangioendothelioma:

9 (show top 50) (show all 1353)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM94290791 XIAP soft tissue,blood vessel,angiosarcoma,NS c.73G>C p.E25Q 23:123885735-123885735 3
2 COSM92181036 XIAP soft tissue,blood vessel,angiosarcoma,NS c.73G>C p.E25Q 23:123885735-123885735 3
3 COSM108084128 XIAP soft tissue,blood vessel,angiosarcoma,NS c.73G>C p.E25Q 23:123885735-123885735 3
4 COSM91383022 WT1 soft tissue,blood vessel,angiosarcoma,NS c.983G>A p.W328* 11:32416508-32416508 3
5 COSM148593299 WT1 soft tissue,blood vessel,angiosarcoma,NS c.983G>A p.W328* 11:32416508-32416508 3
6 COSM100781781 WT1 soft tissue,blood vessel,angiosarcoma,NS c.347G>A p.W116* 11:32416508-32416508 3
7 COSM149739973 WT1 soft tissue,blood vessel,angiosarcoma,NS c.983G>A p.W328* 11:32416508-32416508 3
8 COSM130518667 WT1 soft tissue,blood vessel,angiosarcoma,NS c.314+1069G>A p.? 11:32416508-32416508 3
9 COSM113485009 WT1 soft tissue,blood vessel,angiosarcoma,NS c.983G>A p.W328* 11:32416508-32416508 3
10 COSM111539054 WT1 soft tissue,blood vessel,angiosarcoma,NS c.950+1069G>A p.? 11:32416508-32416508 3
11 COSM147426307 WT1 soft tissue,blood vessel,angiosarcoma,NS c.950+1069G>A p.? 11:32416508-32416508 3
12 COSM149814991 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
13 COSM151514404 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4510C>T p.R1504W 16:2085245-2085245 3
14 COSM150365953 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
15 COSM151378978 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
16 COSM151755621 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
17 COSM150324884 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
18 COSM150315618 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4384C>T p.R1462W 16:2085245-2085245 3
19 COSM102634843 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
20 COSM148983289 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4387C>T p.R1463W 16:2085245-2085245 3
21 COSM101196039 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2347C>G p.H783D 16:2074338-2074338 3
22 COSM136629025 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1106G>A p.W369* 16:2060767-2060767 3
23 COSM87041278 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
24 COSM148996186 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
25 COSM150586941 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
26 COSM147712334 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
27 COSM110114858 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.962G>A p.W321* 16:2060767-2060767 3
28 COSM136619132 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4417C>T p.R1473W 16:2085245-2085245 3
29 COSM90415849 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
30 COSM151518304 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
31 COSM110120269 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2383C>G p.H795D 16:2074338-2074338 3
32 COSM149803740 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4453C>T p.R1485W 16:2085245-2085245 3
33 COSM150369517 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
34 COSM150584116 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
35 COSM110105462 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4276C>T p.R1426W 16:2085245-2085245 3
36 COSM90421077 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
37 COSM151371641 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4579C>T p.R1527W 16:2085245-2085245 3
38 COSM151519993 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
39 COSM149820498 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
40 COSM87029815 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4585C>T p.R1529W 16:2085245-2085245 3
41 COSM151748696 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4456C>T p.R1486W 16:2085245-2085245 3
42 COSM101192082 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.926G>A p.W309* 16:2060767-2060767 3
43 COSM102630453 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
44 COSM148992188 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
45 COSM147707387 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
46 COSM151376817 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
47 COSM87046601 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.2494C>G p.H832D 16:2074338-2074338 3
48 COSM147694585 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4456C>T p.R1486W 16:2085245-2085245 3
49 COSM151753419 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.1073G>A p.W358* 16:2060767-2060767 3
50 COSM101182298 TSC2 soft tissue,blood vessel,angiosarcoma,NS c.4240C>T p.R1414W 16:2085245-2085245 3
Sources

Expression for Kaposiform Hemangioendothelioma

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Search GEO for disease gene expression data for Kaposiform Hemangioendothelioma.
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Pathways for Kaposiform Hemangioendothelioma

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Pathways related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Phospholipase-C Pathway 63
Show member pathways
 12.65 MTOR KDR GNA14 FLT4
2
p70S6K Signaling 63
Show member pathways
 12.59 MTOR KDR GNA14 FLT4
3
PI3K-Akt signaling pathway 36
Show member pathways
 12.39 VWF MTOR KDR FLT4
4
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.14 MTOR KDR FLT4
5
Apoptosis Pathway 70
Show member pathways
 12.03 MTOR KDR FLT4
6
Calcium signaling pathway 36
11.92 KDR GNA14 FLT4
7
ECM-receptor interaction 36
Show member pathways
 11.52 VWF PECAM1 KDR
8
Vemurafenib Pathway, Pharmacodynamics 60
11.11 KDR FLT4
9
Angiogenesis (CST) 4
10.97 VWF PROX1 PECAM1 KDR FLT4
10
Pazopanib Pathway, Pharmacokinetics 60
Show member pathways
 10.85 KDR FLT4
11
VEGF binds to VEGFR leading to receptor dimerization 65
Show member pathways
 10.16 KDR FLT4
Sources

GO Terms for Kaposiform Hemangioendothelioma

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Biological processes related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.71 VWF PECAM1 KDR
2 protein autophosphorylation GO:0046777 9.69 MTOR KDR FLT4
3 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.52 KDR FLT4
4 positive regulation of endothelial cell migration GO:0010595 9.5 PROX1 KDR FLT4
5 vascular endothelial growth factor signaling pathway GO:0038084 9.49 KDR FLT4
6 endothelial cell differentiation GO:0045446 9.48 PROX1 KDR
7 positive regulation of vasculogenesis GO:2001214 9.46 KDR CD34
8 lymphangiogenesis GO:0001946 9.43 PROX1 FLT4
9 lymph vessel development GO:0001945 9.4 PROX1 FLT4
10 vascular wound healing GO:0061042 9.37 KDR CD34
11 endothelium development GO:0003158 9.26 KDR CD34
12 positive regulation of protein phosphorylation GO:0001934 9.26 PECAM1 MTOR KDR FLT4
13 glomerular endothelium development GO:0072011 9.16 PECAM1 CD34
14 positive regulation of endothelial cell proliferation GO:0001938 8.92 PROX1 MTOR KDR FLT4

Molecular functions related to Kaposiform Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.96 KDR FLT4
2 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 KDR FLT4
Sources

Sources for Kaposiform Hemangioendothelioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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